A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512545



Internal ID20885880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23358834..23360125hg38UCSC Ensembl
chr16:23370155..23371446hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178119
Samples
Known GenesSCNN1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512545
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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